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rs200472954

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200472954(C;T)
Make rs200472954(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11213198
GeneDOCK6, LOC105372273
is asnp
is mentioned by
dbSNPrs200472954
ebirs200472954
HLIrs200472954
Exacrs200472954
Varsomers200472954
Maprs200472954
PheGenIrs200472954
hapmaprs200472954
1000 genomesrs200472954
hgdprs200472954
ensemblrs200472954
gopubmedrs200472954
geneviewrs200472954
scholarrs200472954
googlers200472954
pharmgkbrs200472954
gwascentralrs200472954
openSNPrs200472954
23andMers200472954
23andMe allrs200472954
SNP Nexus

SNPshotrs200472954
SNPdbers200472954
MSV3drs200472954
GWAS Ctlgrs200472954
Max Magnitude0
ClinVar
Risk rs200472954(T;T)
Alt rs200472954(T;T)
Reference rs200472954(C;C)
Significance Probable-Pathogenic
Disease Adams-Oliver syndrome 2
Variation info
Gene DOCK6 LOC105372273
CLNDBN Adams-Oliver syndrome 2
Reversed 0
HGVS NC_000019.9:g.11323874C>T
CLNSRC
CLNACC RCV000184028.1,